Canonical Allele Identifier: CA412395192

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19375797T>C (hg19) ; chrX:g.19357679T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19357679T>C , CM000685.2:g.19357679T>C	GRCh38
NC_000023.10:g.19375797T>C , CM000685.1:g.19375797T>C	GRCh37
NC_000023.9:g.19285718T>C	NCBI36
NG_016781.1:g.18787T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.880T>C	ENSP00000348062.6:p.Tyr294His
ENST00000379805.4:c.*551T>C	ENSP00000369133.3:n.*551T>C
ENST00000417819.6:c.943T>C	ENSP00000404616.2:p.Tyr315His
ENST00000423505.6:c.973T>C	ENSP00000406473.2:p.Tyr325His
ENST00000481733.2:n.654T>C
ENST00000696704.1:c.*191T>C	ENSP00000512823.1:n.*191T>C
ENST00000696705.1:c.*314T>C	ENSP00000512824.1:n.*314T>C
ENST00000422285.7:c.859T>C MANE Select	ENSP00000394382.2:p.Tyr287His
ENST00000379804.1:c.16T>C	ENSP00000369132.1:p.Tyr6His
ENST00000379806.9:c.973T>C	ENSP00000369134.5:p.Tyr325His
ENST00000422285.6:c.859T>C	ENSP00000394382.2:p.Tyr287His
ENST00000478795.1:n.298T>C
ENST00000481733.1:n.287T>C
ENST00000540249.5:c.766T>C	ENSP00000440761.1:p.Tyr256His
ENST00000545074.5:c.880T>C	ENSP00000438550.1:p.Tyr294His
NM_000284.3:c.859T>C	NP_000275.1:p.Tyr287His
NM_001173454.1:c.973T>C	NP_001166925.1:p.Tyr325His
NM_001173455.1:c.880T>C	NP_001166926.1:p.Tyr294His
NM_001173456.1:c.766T>C	NP_001166927.1:p.Tyr256His
XM_011545531.1:c.994T>C	XP_011543833.1:p.Tyr332His
XM_011545532.1:c.901T>C	XP_011543834.1:p.Tyr301His
XM_017029574.2:c.880T>C	XP_016885063.1:p.Tyr294His
NM_000284.4:c.859T>C MANE Select	NP_000275.1:p.Tyr287His
NM_001173454.2:c.973T>C	NP_001166925.1:p.Tyr325His
NM_001173455.2:c.880T>C	NP_001166926.1:p.Tyr294His
NM_001173456.2:c.766T>C	NP_001166927.1:p.Tyr256His